Submissions for variant NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)

gnomAD frequency: 0.00719  dbSNP: rs77014998

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145383	SCV000192466	likely benign	not specified	2014-04-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145383	SCV000314213	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000624968	SCV000457352	likely benign	Joubert syndrome 17	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555099	SCV000647827	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000555099	SCV000729105	benign	not provided	2019-07-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25905921)
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000624968	SCV000743216	benign	Joubert syndrome 17	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000624968	SCV000744321	likely benign	Joubert syndrome 17	2015-09-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498659	SCV002813747	likely benign	Orofaciodigital syndrome type 6; Joubert syndrome 17	2021-09-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000555099	SCV003916939	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CPLANE1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000555099	SCV005259796	likely benign	not provided		criteria provided, single submitter	not provided